Variant Information
| Gene | Coordinates (GRCh37) | Coordinates (GRCh38) | Nucleotide | Protein | Interpretation |
|---|---|---|---|---|---|
| KIT | chr4:55599320 | chr4:54733154 | c.2446G>T | p.Asp816Tyr | Pathogenic |
| KIT | chr4:55599321 | chr4:54733155 | c.2447A>T | p.D816V | Pathogenic |
| KIT | chr4:55599340 | chr4:54733174 | c.2466T>A | p.Asn822Lys | Pathogenic |